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Diagnosis in case of Intellectual Disability and Multipele Congenital Anomalies (SNP-based array or NGS sequencing)

  • Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen
  • Afdeling Genetica
  • Radboudumc - Radboud universitair medisch centrum
  • Geert Grooteplein-Zuid 10
  • 6525 GA NIJMEGEN
  • NETHERLANDS
  • Director of laboratory : Dr H.G. [Helger] IJNTEMA
  • More information
  • Phone : +31 (0)24 361 3799
  • Additional Phone : -
  • Fax : +31 (0)24 361 6658
  • Website
  • Contact
Last update: September 2023

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
Array based techniques
Cytogenetics
Detection of chromosome alterations large in size
NGS sequencing (except WES)
Detection of microdeletions/microduplications
Array based techniques

List of diseases and genes

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.